Kabuki syndrome (KS) is a rare syndrome, sporadic dominant condition with a frequency of 1 / 35000 (between 20 and 25 new children by year in France). Five cardinal criteria have been described for this diagnosis: postnatal growth retardation, mild to moderate mental retardation, skeletal abnormalities, dermatoglyphic abnormalities and characteristic facial dysmorphism. Moreover, a large number of other symptoms are described in KS. Each year, new symptoms are reported in the international literature but without their true frequency or recommendations for the management of patients. However, these criteria are not always present in patients and there is no major or minor criteria for establishing the diagnosis. Nowadays, knowledge of this syndrome is still very fragmentary. At the date of the creation of the network, no molecular basis has been identified for the SK.